ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.639C>T (p.Phe213=) (rs540197003)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601684 SCV000731701 benign not specified 2017-06-26 criteria provided, single submitter clinical testing p.Phe213Phe in exon 7 of MYO7A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.5% (99/18868) East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.bro adinstitute.org/; dbSNP rs540197003).
Invitae RCV000941378 SCV001087263 benign not provided 2019-01-28 criteria provided, single submitter clinical testing

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